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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
HDAC11, LOC126806611
+244 more
Deletion
3p- syndrome
GPathogenic
LOC132088880, LOC132088882
+214 more
Copy number gain
See cases
GPathogenic
BALR6, EFHB
+39 more
Copy number gain
See cases
GUncertain significance
EFHB, KAT2B
+53 more
Copy number loss
See cases
GUncertain significance
KCNH8
(I30V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(Y44C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(L81V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(M98V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(Y100H)
Single nucleotide variant
(missense variant)
Action myoclonus-renal failure syndrome
GLikely pathogenic
KCNH8
(D112G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(V124A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(K146R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(R164W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(R164Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(R168Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(K183N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(K183N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(F193L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(L215P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(R277Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(L311M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(N320S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(K331R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(Q343R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(M360L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(A371V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(H396R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(L412F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(G436D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(F511V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8, LOC126806624
(R535H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8, LOC126806624
(Q548L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8, LOC126806624
(L551V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8, LOC126806624
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KCNH8, LOC126806624
(R580H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(D622E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(I642V)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH8
(H667R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(T670R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S683P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S686P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(N699K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(E713K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S735T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(R738C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S758L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNH8
(I767L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S770P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(P784R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(H786R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(L809F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(T828A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(F829S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(K859E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(G885V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(M888I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(V898I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S929I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(Q932R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(G941R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(A947P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S960R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S964T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(P980S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(E984Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNH8
(V1000D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(H1005R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S1032Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(H1043Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(S1048C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(E1052A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNH8
(V1092A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
ANKRD28, BTD
+41 more
Copy number gain
See cases
GPathogenic
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+112 more
Copy number gain
not specified
GPathogenic
ACAA1, ACVR2B
+93 more
Deletion
not provided
GPathogenic
KCNH8, SATB1
Copy number loss
Developmental delay with dysmorphic facies and dental anomalies
GPathogenic
KCNH8
Copy number gain
not provided
GUncertain significance
EFHB, KAT2B
+15 more
Copy number loss
not provided
GPathogenic
KCNH8
Copy number gain
not provided
GUncertain significance
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
ANKRD28, ARL8B
+98 more
Copy number gain
not provided
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
KCNH8
Copy number loss
See cases
GUncertain significance
TRIM71, TRNT1
+145 more
Copy number gain
See cases
GPathogenic
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